- Department of Neurosurgery, Highly Specialized Hospital of National Importance “Garibaldi,” Catania,
- Department of Experimental Biomedicine and Clinical Neurosciences, School of Medicine, Postgraduate Residency Program in Neurological Surgery, A.O.U.P. “Paolo Giaccone,” Palermo, Italy.
Correspondence Address:
Gianluca Scalia, Department of Neurosurgery, Highly Specialized Hospital of National Importance “Garibaldi,” Catania, Italy.
DOI:10.25259/SNI_633_2022
Copyright: © 2022 Surgical Neurology International This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.How to cite this article: Alessandro Calì1, Federica Paolini2, Gianluca Scalia1, Carmelo Riolo1, Massimiliano Giuffrida1, Domenico Gerardo Iacopino2, Giovanni Federico Nicoletti1. Spinal cord compression from cutaneous malignant peripheral nerve sheath tumor metastasis in a patient with neurofibromatosis Type 1. 29-Jul-2022;13:330
How to cite this URL: Alessandro Calì1, Federica Paolini2, Gianluca Scalia1, Carmelo Riolo1, Massimiliano Giuffrida1, Domenico Gerardo Iacopino2, Giovanni Federico Nicoletti1. Spinal cord compression from cutaneous malignant peripheral nerve sheath tumor metastasis in a patient with neurofibromatosis Type 1. 29-Jul-2022;13:330. Available from: https://surgicalneurologyint.com/surgicalint-articles/11748/
Abstract
Background: Neurofibromatosis Type 1 (NF-1) and previous irradiation are two common risk factors that can result in malignant peripheral nerve sheath tumors (MPNSTs), extremely rare soft-tissue sarcomas. Here, a 63-year-old male with NF-1 presented with diffuse spinal metastases from a subcutaneous MPNST.
Case Description: A 63-year-old male with NF-1 presented acutely with paraplegia and urinary incontinence. Both CT and MR studies of the thoracic-lumbosacral spine showed multiple metastases from a subcutaneous MPNST. In addition, the patient had a T12 vertebral body pathological fracture.
Conclusion: Despite its aggressive behavior, some cases of MPNST can be managed with gross total resection and adjuvant radiotherapy. In addition, in the presence of multiple metastases, chemotherapy may play an additional, although questionable role.
Keywords: Gross total removal, Metastasis, Neurofibromatosis, Paraplegia, Spine
INTRODUCTION
Malignant peripheral nerve sheath tumors (MPNSTs) are rare malignant mesenchymal tumors that are found in approximately 1/100.000/year in the general population. For patients with neurofibromatosis Type 1 (NF-1), about one of ten patients will develop this tumor during their lifetime.[
CASE DESCRIPTION
A 63-year-old male patient with NF-1 presented with a 2-week history of low back pain and progressive lower extremity weakness. On admission, he was paraplegic with acute urinary retention (i.e., 0/5 lower extremity function with diffuse hyperreflexia, clonus, and bilateral Babinski signs).
Diagnostic studies: MR and CT
He underwent a lumbosacral MRI that showed a T12 burst pathological fracture with severe spinal cord compression. Findings included: a thick epidural mass, a large subcutaneous ovalar lesion near the L3 and L4 spinous processes (54 × 60 × 39 mm) that was inhomogeneous in pattern on T1/T2-weighted images and STIR sequences [
Figure 1:
Preoperative thoracolumbosacral MRI T2-weighted sagittal (a) and axial (b) images documented a T12 burst pathological fracture with severe spinal cord compression by a thick epidural tissue and a large subcutaneous paraspinal ovalar lesion (54 × 60 × 39 mm). These lesions appear inhomogeneously hyperintense on STIR sequences (c).
Histology
The histological samples documented a MPNST with spinal metastasis. The high mitotic index was confirmed by the presence of multiple necrotic areas and a 1 cm sarcomatous focus. A small region of atypical neurofibroma was also shown, proving the evolution of the malignant lesion from an original benign neurofibroma.
Postoperative recovery
Postoperatively, the patient regained partial motor function (BMRC 3/5) and urinary continence.
DISCUSSION
Frequency and etiology of MPNST
MPNSTs are rare tumors, affecting about 10% of patients with NF-1.[
Treatment strategies
The optimal treatment for MPNST is a GTR with microscopically negative surgical margins followed by adjuvant RT. RT is useful both in reducing the risk of recurrence and in improving local control if GTR is not feasible.[
Role of RT for MPNST
The role of RT in preventing early recurrence is well established. In the literature, there are two cases of patients affected by MPNST treated with GTR without adjuvant RT. These patients both presented with early recurrences, 2 months and 6 months, respectively, after surgery.[
Prognostic factors
Several prognostic factors have been analyzed in the literature. These include tumor size, tumor grade and histology, patients with NF-1, previous radiation therapy, and surgical clean margins. A recent paper by Yan et al. in selected patients diagnosed with MPNST from the surveillance, epidemiology, and end results database showed that age, histology, grading, and chemotherapy were independent prognostic factors for OS, while the location of primitive lesion, GTR, grading, and chemotherapy are prognostic factors for cause-specific survival.[
Locally aggressive tumors and surgical resection considerations
MPNSTs are aggressive tumors, with tendency of local recurrence and hematogenous spread to lymph nodes, lung, liver, and rarely bones. Intradural presentation is rare. There is an increased risk of the central nervous system metastasis from either paraspinal or subcutaneous lesions.[
With spinal lesions, GTR is challenging. In these cases, one must strike a balance between GTR and the potential risk of creating neurological deficits. As shown in a recent case, a patient underwent a total sacrectomy with severe postoperative deficits compromising his life.[
Moreover, spinal MPNSTs have a doubled risk of metastasis if when compared to other locations.[
Considering the risk-benefit balance, in paraspinal lesion surgeons should remove the maximal percentage of the tumor to minimize the risk of neurological deficits.[
Marginal utility of chemotherapy
Chemotherapy plays a marginal role in the treatment of MPNST. It is typically only used as a salvage therapy in patients with multiple metastases where neither surgery nor RT can be performed.[
CONCLUSION
MPNST are rare that mostly affecting NF-1 patients. They can present as aggressive tumors that require GTR along with adjuvant RT in case of spinal metastases.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
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